Analysis Tools
endocrine/exocrine glands
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• absence of the adrenal glands is seen with incomplete penetrance; however, the thyroid and pancreas are normal
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• thymic atrophy is seen in 2 of 14 mutants
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immune system
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• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls
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• thymic atrophy is seen in 2 of 14 mutants
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• the TCR-Vbeta repertoire is altered in peripheral T cells
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• 73% of homozygous mice generated autoantibodies against at least one of the organs (liver, testis, pancreas and adrenal gland) tested and 40% of mice contain autoantibodies against two or more of the organs
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• 50% of mutants exhibit accumulation of lymphocytes in periportal regions
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liver/biliary system
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• 50% of mutants exhibit accumulation of lymphocytes in periportal regions
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reproductive system
infertility
(
J:77873
)
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• 85% of male or female mutants fail to produce any litters
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hematopoietic system
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• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls
|
|
• thymic atrophy is seen in 2 of 14 mutants
|
|
• the TCR-Vbeta repertoire is altered in peripheral T cells
|
cellular
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• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autoimmune polyendocrine syndrome type 1 | DOID:0050167 |
OMIM:240300 |
J:77873 | |
